FMRP Antibody

(FMRP) FMR1

(FMRP) FMR1 is strongly expressed in neurons, testis, ovaries, placenta, or lymphocytes. This selective RNA-binding protein forms a messenger ribonucleoprotein complex that associates with polyribosomes, implicated in repression of translation.

(FMRP) FMR1 is also a component of the CYFIP1-EIF4E-FMR1 complex that binds to the mRNA. It has a role in the transport of mRNA from the nucleus to the cytoplasm, binding strongly to poly (G), less to poly (U), and very slightly to poly (A) and (C).

(FMRP) FMR1-Related Diseases

Fragile X syndrome (FXS) is caused by expansion of the CGG trinucleotide repeat in the FMR1 gene. It is a multigenerational disorder with a strong effect not only on individuals but also on their families. It is the second most common intellectual disability after Down’s syndrome.

FXS is a late-onset condition in males (and some females) who have an FMR1 premutation and results in balance, tremor, and memory problems.

FMR1-related POI (age at cessation of menses < 40 years) is characterized by decreased ovarian function, which can lead to infertility and early menopause in approximately 20% of females who have an FMR1 premutation.